UniProtKB/Swiss-Prot P61812: Variant p.Arg320Cys

Transforming growth factor beta-2 proprotein
Gene: TGFB2
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Variant information Variant position:

320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Cysteine (C) at position 320 (R320C, p.Arg320Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

Found in a family with non-syndromic aortic disease; likely pathogenic. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1553303352 [ dbSNP | Ensembl ]

Sequence information Variant position:

320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

414 The length of the canonical sequence.
Location on the sequence:

KKRALDAAYCFRNVQDNCCL R PLYIDFKRDLGWKWIHEPKG The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         KKRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKWIHEPKG

Mouse                         KKRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKWIHEPKG

Rat                           RKRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKWIHEPKG

Pig                           KKRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKWIHEPKG

Bovine                        KKRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKWIHEPKG

Chicken                       KKRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKWIHEPKG

Xenopus laevis                KKRALDAAYCFRNVQDNCCLRPLYIDFKKDLGWKWIHEPKG

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	21 – 414	Transforming growth factor beta-2 proprotein
Chain	303 – 414	Transforming growth factor beta-2
Disulfide bond	317 – 380
Beta strand	315 – 320

Literature citations
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
Gago-Diaz M.; Blanco-Verea A.; Teixido-Tura G.; Valenzuela I.; Del Campo M.; Borregan M.; Sobrino B.; Amigo J.; Garcia-Dorado D.; Evangelista A.; Carracedo A.; Brion M.;
Clin. Chim. Acta 437:88-92(2014)
Cited for: INVOLVEMENT IN NON-SYNDROMIC AORTIC DISEASE; VARIANT CYS-320;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.